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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… Shriner D, Adeyemo A, Ramos E, Chen G, et al. Mapping of disease-association variants in admixed population. Genome … in West African Type 2 Diabetes Patients: Ethnicity & Disease. 2003:40,87-94 Ao Yuan, Guanjie Chen, Yuanxiu Chen, … K. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.(Net Genet. 2007 Jun;39(6):770-775 …
Staff
Dr. Temesgen Fufa is a program director in NHGRI's Division of Genome Sciences.
… how gene regulation plays a role in development and human disease. Dr. Fufa is involved with directing a portfolio of … the application of multiomics technologies in health and disease and technology development for protein sequencing. He … his postdoctoral research at NHGRI in the Genetic Disease Research Branch. … Biography … Publications … Related …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… His postdoctoral training program has been recognized by disease foundations as an effective collaborative bridge to … advisor to NIH-funded chemistry and screening centers, disease foundations, and international chemical biology … or organismal systems that recapitulate an aspect of disease phenotypes in an experimentally efficient and …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… acidemia (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal studies … efforts to develop AAV gene therapy to treat Niemann-Pick Disease, Type C1 disease, a rare and lethal inherited neurological disorder. …
Staff
Dr. David Miller is the incoming chief of NHGRI's Scientific Review Branch.
… on the cellular and molecular mechanisms of Parkinson’s disease. Before joining NIH, Dr. Miller conducted … associated with the pathophysiology of Parkinson’s disease and related neurodegenerative diseases. Dr. Miller …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with … The deficiencies present in patients with mitochondrial disease may affect these processes. In order to describe the … morbidity map as a guide for identifying mitochondrial disease patients that may have defects in innate or adaptive …
Staff
Mr. Ismail Safi is a program specialist in NHGRI's Division of Genome Sciences.
… the Genomics Research to Elucidate the Genetics of Rare Disease Consortium (GREGoR), and the Genetic Architecture of … disorders such as Alzheimer’s and Parkinson’s disease. Ismail has a long-standing interest in …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… colleagues have published a number of papers that connect disease pathophysiology in MMA to mitochondrial dysfunction … belong to the organic acidemia category of metabolic disease, and represent a group of collectively common inborn … pancreatic dysfunction, diabetes, chronic kidney disease, osteoporosis, obesity and retinal degeneration, it …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… and the development of initiatives focused on “omics of disease.” Dr. Morales is interested in the role of human genetic variation in health and disease and in leveraging genomic findings to improve medical …